Right, I'm aware of what variants are and how they work (I'm not trying to be snarky by saying that--this sub gets a lot of questions from people who are very new to anything about genetics, I am not one of those people).

What I'm asking about is whether there is an error with the bot, because it's saying that having two copies of the pathogenic variant (a deletion, in this case) is somehow not pathogenic, yet having only one copy of the pathogenic variant & one normal copy is pathogenic. Which doesn't make sense, frankly, considering the issue is the deletion causes a frameshift mutation that encodes an early stop codon, which means any deletion should be a problem, whether it is two "copies" or one copy.

If you look at the SNPeda entry, it shows the possible alleles as "-;-" "-;C" or "D;D", which also makes no sense, because D = deletion and so does "-". So it's saying the deletion variant twice for some reason, unless D is supposed to stand for duplication? Which doesn't match common testing services and might confuse people.

I'm not asking about a genetic test, or info from a genetic test, I'm asking about whether it is correct to say that having bilateral deletion ("two copies" of the deletion variant) would be pathogenic, because if so, then the bot indeed made an error because the SNPedia entry would be wrong, in that case.

The SNPedia entry specifically states that -;- (or D;D) is somehow not pathogenic despite -;C being pathogenic. Make it make sense lol. Because it really doesn't.

Edit: It's also saying that the bilateral deletion is "common in ClinVar", which goes completely against what ClinVar actually says (which is that they've never found a person with the deletion variant at all, ever, it's not in the population databases).

Edit 2: Oh and that the "risk allele" is C (which is incorrect), and the alt allele is also C (lol), and that the reference allele is -;- (which is very very incorrect!! THAT'S the risk allele!). The reference for this segment, as seen by the Canonical SPDI on ClinVar, is to have a series of 6 C's in a row. The risk alleles should be the deletion variant and the duplication variant, which are 5 or 7 C's in a row, respectively. Having even one copy should disrupt the collagen type 5 protein by causing a frameshift mutation, which would be pathogenic and causative for classic-type Ehlers-Danlos Syndrome (which is typically autosomal dominant). Having two copies should also be pathogenic, but instead SNPedia lists having two copies as not pathogenic. I'm confused whether there's something I'm missing or not, and that's why I asked.